Canonical Allele Identifier: CA2573155168

Gene: DSC2

Linked Data

• ClinVar Variation Id: 1531096
• ClinVar RCV Id: RCV002092271
• dbSNP Id: rs201147144

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089431G>T , CM000680.2:g.31089431G>T	GRCh38
NC_000018.9:g.28669394G>T , CM000680.1:g.28669394G>T	GRCh37
NC_000018.8:g.26923392G>T	NCBI36
NG_008208.2:g.17995C>A , LRG_400:g.17995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+8C>A	ENSP00000507826.1:n.201+8C>A
ENST00000251081.8:c.630+8C>A	ENSP00000251081.6:n.630+8C>A
ENST00000280904.11:c.630+8C>A MANE Select	ENSP00000280904.6:n.630+8C>A
ENST00000648081.1:c.201+8C>A	ENSP00000497441.1:n.201+8C>A
ENST00000251081.6:c.630+8C>A	ENSP00000251081.6:n.630+8C>A
ENST00000280904.10:c.630+8C>A	ENSP00000280904.6:n.630+8C>A
NM_004949.4:c.630+8C>A	NP_004940.1:n.630+8C>A
NM_024422.4:c.630+8C>A	NP_077740.1:n.630+8C>A
XM_005258206.3:c.201+8C>A	XP_005258263.1:n.201+8C>A
XM_005258206.4:c.201+8C>A	XP_005258263.1:n.201+8C>A
NM_004949.5:c.630+8C>A	NP_004940.1:n.630+8C>A
NM_024422.6:c.630+8C>A MANE Select	NP_077740.1:n.630+8C>A